Preliminary characterization of lysosomal-related genes in two tay sachs variant B1 fibroblast cell lines

Aim: The present work focus on the NGS characterization of lysosomal-related genes in two skin fibroblast cell lines from TSD variant B1 patients with the mutation p.R178H prior to the manipulations to generate hiPSCs and NPCs. Registering the gene variants at “time zero” will allow the eventual det...

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Detalhes bibliográficos
Autor principal: Ribeiro, Diogo (author)
Outros Autores: Marisa, Encarnação (author), Silva, Lisbeth (author), Duarte, Ana Joana (author), Alves, Sandra (author), Amaral, Olga (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2022
Assuntos:
Human Genetics
Tay Sachs variant B1
iPSC
Cell Models
NGS
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/8132
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/8132
Descrição
Resumo:Aim: The present work focus on the NGS characterization of lysosomal-related genes in two skin fibroblast cell lines from TSD variant B1 patients with the mutation p.R178H prior to the manipulations to generate hiPSCs and NPCs. Registering the gene variants at “time zero” will allow the eventual detection of future alterations.

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